The empty follicle syndrome (EFS) is a rare complication of in vitro fertilization (IVF) treatment, leading to cycle cancellation. Low human chorionic gonadotropin (hCG) bioavailability and ovarian dysfunction have been implicated with this condition. This case report illustrates a typical case of EFS and several strategies suggested to overcome this ...

Disorders of fatty tissue metabolism and body contour are frequently described in the literature. Several different syndromes have been ascribed to recurring characteristics of fatty deposition with similar underlying etiologies. These syndromes can generally be classified into the lipomatoses (abnormal accumulations of fat) and the lipodystrophies (abnormal fat atrophy). The ...

A small number of cases of Crohn disease associated with myelodysplastic syndromes or leukemia have been reported in adults in the last 25 years in the English-language medical literature. The authors report a case of a 9-year-old boy who developed Crohn disease and myelodysplastic syndrome concurrently. Analysis of his bone ...

INTRODUCTION: In 1985, Firestein et al. described 5 patients with relapsing polychondritis and Behçet's disease (BD) and proposed the term "MAGIC" syndrome as an acronym for "Mouth and Genital ulcers with Inflamed Cartilage". We report on an additional case of this syndrome and critically review the literature. RESULTS: From 1985 ...

Ichthyosis is a cutaneous keratinization disorder that can either be congenital or acquired. Acquired ichthyosis has been reported in association with a variety of neoplastic, autoimmune, and infectious diseases. We report the case of a 68-year-old woman who presented with generalized ichthyosis as the first manifestation of myelodysplastic syndrome. This ...

We report on two new Brazilian cases and reviewed two previously reported patients with a characteristic combination of signs including mandibulofacial dysostosis, a clinical suggestion of trigonocephaly, microcephaly, unusual ears with skin tags, and cleft palate. Follow-up of these patients revealed growth and mental retardation, and severe language and speech ...

Gitelman syndrome (GS) is a rare autosomal recessive, inherited renal tubular disorder. Herein, we report three cases of GS, one sporadic case and two siblings. They have typical laboratory findings, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. All of them were treated with oral potassium and magnesium supplements. They received ...

Dorfman-Chanarin syndrome is a rare, autosomal recessive disorder characterized by congenital ichthyosis and presence of intracellular lipid droplets in most tissues. Here, we present a patient from Turkey, who is the fourth Turkish case in the literature with this syndrome, and we review the previous reported cases. He was also ...

We report on four additional unrelated cases of Bohring-Opitz syndrome with the highly characteristic phenotype of facial anomalies including bulging forehead over the metopic suture, frontal nevus flammeus, exophthalmos, hypertelorism, upslanting palpebral fissures, and cleft lip and/or palate, as well as flexion deformities of the upper limbs, multiple other anomalies, ...

Most of the evidence supporting the use of corticosteroids (steroids) for immune reconstitution syndrome (IRS) comes from case reports or retrospective series and is of low quality. However, when steroids are used, they have usually been associated with clinical improvement or resolution of IRS. Except in the case of hepatitis ...

Neuroleptic malignant syndrome (NMS) is an uncommon but sometimes fatal complication of neuroleptics and other medications that involve the central dopaminergic system. Many diagnostic criteria have been proposed for NMS but because of its variable presentation, universal criteria have not been established yet. Hyperthermia, disturbances of consciousness, extrapyramidal and autonomic ...

To report a case of brain injury following neuroleptic malignant syndrome (NMS) and review the literature for similar documented cases. A 30-year old woman presented to the ER with psychotic features and was treated with several anti-psychotics. Subsequently, she developed neurological symptoms and was diagnosed with neuroleptic malignant syndrome. Following ...

Erotomania (also known as De Clerambault's syndrome) is usually described as a rare delusional syndrome that characteristically involves a woman who believes that a man, typically of higher social, economic or political status, is in love with her. Two cases are reviewed here that have been followed for over 30 ...

The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of syndromes. However, it remains paramount to define unknown genesis syndromes as precisely and appropriately as possible in order to provide accurate prognosis and to facilitate future research. The presentation of ...

Gorham-Stout syndrome is a rare disease characterized by vascular proliferation in the bones, effecting osteolysis. When it is complicated by chylothorax, the prognosis is poor. The present case illustrates successful management of chylothorax by a combination of surgery (thoracic duct ligation and excision of lymphangiomatous tissue combined with pleurodesis) and ...

Current best evidence for the conservative management of radial tunnel syndrome (RTS) consists primarily of expert opinion and inferences taken from studies on other nerve compressions and related syndromes. There are limited data reported in the literature of this particular disorder. This article reviews literature on modalities, therapeutic exercise, ergonomic ...

PURPOSE: To describe the clinical features in a series of patients with poststreptococcal uveitis and to review literature on the pathophysiology and management. DESIGN: Retrospective and descriptive case series. PARTICIPANTS: Ten consecutive cases of poststreptococcal syndrome uveitis diagnosed between 1996 and 2003. METHODS: Review of patient case notes. MAIN OUTCOME ...

Invasive fungal mastoiditis is a rare entity, seen almost entirely in immunocompromized patients. It has been reported primarily in patients with leukaemia and more recently with acquired immunodeficiency syndrome. A literature search revealed only a few reports in diabetic patients, in whom the invasive fungus was identified as mucormycosis in ...

Acrokeratosis paraneoplastica of Bazex is a rare syndrome. This condition is a distinct skin marker of supra-diaphragmatic neoplasia. This syndrome is important because the cutaneous findings preceed the onset of symptoms referable to the underlying neoplasm by several months in majority of the cases. We report here a case of ...

Kawasaki syndrome is an acute, self-limiting vasculitis that occurs mainly in children. The disorder is difficult to diagnose, a problem compounded by the lack of a specific diagnostic test. If the condition is unrecognised or treated sub-optimally, there is a 25% risk of developing serious cardiovascular complications. We report the ...

In the present paper the authors examine two cases of Currarino syndrome and review the existing literature on the disease. Both cases presented with chronic constipation. The first concerns a two year old male born with anorectal stenosis and diagnosed with Currarino syndrome when scimitar sacrum and anterior meningocele were ...

Neurocysticercosis (NCC) remains a major public health problem in developing countries as it is the most common helminthic infection of the central nervous system. Clinical manifestations are non-specific and pleomorphic. Case reports on uncommon presentations of NCC are few. We report six interesting cases of NCC with unusual clinical presentation ...

The term "alien hand syndrome (AHS)" comprises many clinical signs of which the common features are the involuntary motor movement of the affected limb and the denial of limb ownership. It can result from several diseases involving corpus callosum or medial frontal cortex. Two major types of AHS were previously ...

A case of Horner syndrome diagnosed during the follow-up after major thoracic trauma is presented in this report. A 10-year-old boy was admitted to the emergency service with severe thoracic trauma with left clavicular and first rib fracture after a traffic accident. During the follow-up, myosis and ptosis were recognized ...

Toddlers commonly present to medical services with non-specific symptoms. The presence of refusal to walk and nocturnal waking with crying should alert clinicians to the possibility of discitis. Features that may alert clinicians to the diagnosis of discitis in young children are reviewed.

Dubowitz syndrome is a rare condition in which the affected individual presents with dysmorphic facial features and manifests growth retardation. Although the condition is well reported in the medical literature, the dental manifestations have not been discussed in great detail. Some of the dental features reported include macrodontia, hypodontia, delayed ...

BACKGROUND: Although the clinicopathologic features of solitary rectal ulcer syndrome (SRUS) are well documented, the heterogeneous endoscopic appearance of lesions that the syndrome produces and its rare incidence may make for clinical confusion. METHODS: Together with a literature review, we describe the variety of lesions experienced in our hospital with ...

This paper reviews all reports of Cotard's syndrome (délire de négation) in adolescents and young adults and summarizes four consecutive cases seen at our institution during the past 10 years. Cotard's syndrome occurs infrequently in young people (19 cases have been reported so far, including a 15-year-old boy who died ...

BACKGROUND: Diogenes syndrome (DS) is characterized by extreme self-neglect, domestic squalor, and social withdrawal. Despite having been described decades ago, it is still difficult to persue a correct diagnosis in primary care clinics. METHODS: This paper reports a case of an elderly man with extreme self neglect and an abnormal ...

INTRODUCTION: Encephalocraniocutaneous lipomatosis is a rare congenital disorder characterized by an abnormal development of adipose tissue, and is of unknown pathogenesis. Catherine Haberland and Maurice Perou first diagnosed this disorder in 1970. To our knowledge, approximately 25 patients have been reported with this diagnosis but so far, only 1 patient ...

INTRODUCTION: To characterise a homogeneous group of patients with new-onset refractory status epilepticus (NORSE syndrome). MATERIALS AND METHODS: This is a descriptive, semiprospective review of all cases of NORSE syndrome seen between 2000 and 2004 at a tertiary care public hospital in Singapore. A review of the literature was performed ...

The catastrophic antiphospholipid syndrome (CAPS) is a life-threatening sub-entity of the antiphospholipid syndrome (APS) resulting in multiorgan failure and a mortality rate that may reach 50%. The optimal treatment regimen for CAPS is unknown. To evaluate the benefit of therapeutic plasma exchange (TPE) therapy in CAPS, we undertook a computer-assisted ...

We report a case of Feingold syndrome with oesophageal atresia and microcephaly. Marked short stature was present at the age of 9 years. Although short stature has not previously been commented upon as a feature of this syndrome, a review of the literature indicates that it has occurred in several ...

BACKGROUND: This article documents a case of plateau iris syndrome and provides a review of the current concepts regarding the pathogenesis, diagnosis, and management of this condition. CASE REPORT: A patient who had patent peripheral iridotomies O.D. and O.S. to treat previous episodes of acute angle closure came to clinic ...

Reiter's syndrome has characteristically been described in young males and presents with a triad of urethritis, conjunctivitis and arthritis. Reiter's syndrome has been known to affect children, although they usually do not manifest with the typical triad. Only a few such cases have been reported and these have described males ...

BACKGROUND: Wolfram syndrome (WS) is a rare, autosomic recessive genetic disorder. The mortality rate of WS is about 65% before 35 years of age. It presents diagnostic challenges in the clinical practice due to its incomplete characterization. This report represents the first case of undiagnosed Wolfram syndrome in a patient ...

Prader-Willi Syndrome (PWS) is reported in 1 in 10,000-15,000 individuals. Unfortunately, many cases are missed due to clinicians' lack of familiarity with the syndrome as well as clinical and laboratory diagnostic criteria. Although common clinical characteristics are reported, variety exists in the nature and severity of dysfunction associated with PWS. ...

BACKGROUND: Irrigation of closed body spaces may lead to substantial perioperative fluid and electrolyte shifts. A syndrome occurring during transurethral resection of prostate (TURP), and a similar syndrome described in women undergoing transcervical endometrial ablation (TCEA) are both characterised by a spectrum of symptoms which may range from asymptomatic hyponatraemia ...

Restorative proctocolectomy with anastomosis of an ileal pouch to the anal canal is a new and rare cause for triggering the syndrome of duodenal compression by the superior mesenteric artery. Restorative proctocolectomy requires assessment of the position of the duodenum in relation to aortomesenteric constriction to avoid the occurrence of ...

Individuals with holoprosencephaly (HPE) and limb reduction defects have been ascribed historically to a variety of syndromes with overlapping phenotypic features. As such, these patients are challenges for clinicians and researchers alike. In an effort to better understand this association, we reviewed our autopsy records and identified five cases of ...

Peutz-Jeghers syndrome (PSJ) is a relatively rare but well-recognized condition, with a prevalence of approximately one in 120,000 births in the USA. It is generally inherited as an autosomal dominant trait, although 35% of cases are new mutations. This disorder is characterized by melanocytic macules on the hands, feet, peri-oral ...

We report on a male newborn with a rarely described congenital limb deficiency syndrome consisting of shortening and anterior bowing of the right lower limb at the distal third of the tibia with associated overlying soft tissue dimpling, oligodactyly of the right foot, and a left-sided oligosyndactyly of the hand. ...

We report three patients with a history of maternal valproate use during pregnancy who presented with a combination of metopic suture synostosis and upper limb malformations, which could be diagnosed as Baller-Gerold syndrome (BGS). The patients underwent surgical treatment for the craniofacial deformity, during which standard frontocranial reconstruction was performed. ...

I present the case of a 12-year-old girl diagnosed with CHARGE syndrome. As an infant she had shown typical characteristics of CHARGE. Neuroimaging revealed asymmetrical ventriculomegaly. Both her teacher and parents reported academic and psychosocial problems. Neuropsychological assessment revealed significant executive dysfunction, including attention difficulties. We discuss the possible association ...

This is a case study of a child who developed roseola infantum first, then varicella, and was later affected by acute cerebellar syndrome, severe truncal ataxia, and myoclonic dystonia. Human herpesvirus 6 (HHV-6) A and B were detected in the cerebrospinal fluid (CSF) and peripheral blood, respectively, upon ataxia onset. ...